A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. [ https://clinicalgenome.org/affiliation/40006/ http://www.ncbi.nlm.nih.gov/pubmed/29436146 http://www.ncbi.nlm.nih.gov/pubmed/31021519 http://www.ncbi.nlm.nih.gov/pubmed/17377962 ]

Synonyms: SATB2 associated disorder SAS SATB2-associated syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:576278 (MONDO:equivalentTo)
  • GARD:22326 (Orphanet:576278)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://www.orpha.net/ORDO/Orphanet_576278

id

MONDO:0100147

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0100147